CHD6 - chromodomain helicase DNA binding protein 6 Gene

Also Known as CHD5; RIGB; CHD-6

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84181

About CHD6

Cytogenetic location: 20q12 Genomic coordinates (GRCh38): 20:41,402,083-41,618,377 (from NCBI)

This gene has 8 transcripts (splice variants), 194 orthologues and 30 paralogues. Ubiquitous expression in ovary (RPKM 7.0), thyroid (RPKM 6.7) and 25 other tissues.

Summary

This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of Influenza Virus replication. [provided by RefSeq, Jul 2013]

CHD6 Products (1)

mRNA Protein Name
NM_032221.5 NP_115597.3 chromodomain-helicase-DNA-binding protein 6
Molecular Function GO Annotation Evidence 参考文献 由来
enables ATP-dependent activity, acting on DNA IDA
IDA: Inferred from direct assay
17027977 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
16314513 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in cell redox homeostasis IMP
IMP: Inferred from mutant phenotype
16314513 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
16314513 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in nucleoplasm IDA
IDA: Inferred from direct assay
17027977 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHD6 Protein Structure

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (293 - 353)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (376 - 428)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (464 - 751)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (818 - 897)

BRK

BRK: BRK domain (2400 - 2438)

  • 0
  • 500
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  • 2000
  • 2500
  • 2715 a.a.
Protein Preferred Names Protein Names

chromodomain-helicase-DNA-binding protein 6

  • ATP-dependent helicase CHD6

関連疾患

Diseases Alias
Influenza
  • Flu

  • Influenza With Non-Respiratory Manifestation

  • Influenza With Other Manifestations

  • Influenza, Human

  • Influenza, Susceptibility To

  • Seasonal Influenza, Virus Identified

Pitt-Hopkins Syndrome
  • PTHS

  • Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

  • Mental Retardation, Syndromal, With Intermittent Hyperventilation

  • Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

  • Pitt Hopkins Syndrome

  • Phs

  • Encephalopathy Severe Epileptic With Autonomic Dysfunction

Schizophrenia 8
  • SCZD8

  • Schizophrenia Susceptibility Locus, Chromosome 18-Related

  • Schizophrenia 8 With Or Without An Affective Disorder

Hallermann-Streiff Syndrome
  • Francois Dyscephalic Syndrome

  • HSS

  • Hallermann'S Syndrome

  • Oculomandibulofacial Syndrome

  • Hallerman - Streiff Syndrome

  • François Dyscephalic Syndrome

  • Hallermann Streiff Francois Syndrome

  • Hallermann Streiff Syndrome

Adult Spinal Cord Ependymoma
Charge Syndrome
  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Mus musculus CHD6 MGD MGI:1918639
Bos taurus CHD6 VGNC VGNC:27281
Canis familiaris CHD6 VGNC VGNC:39204
Felis catus CHD6 VGNC VGNC:60847
Macaca mulatta CHD6 VGNC VGNC:71022
Rattus norvegicus CHD6 RGD RGD:1310465
Others CHD6 NCBI